TY - JOUR
T1 - Microdeletion 22q11.2, Kousseff syndrome and spina bifida
AU - Seller, M J
AU - Mohammed, S
AU - Russell, J
AU - Ogilvie, C
PY - 2002
Y1 - 2002
N2 - A fetus was diagnosed on ultrasound scan as having sacral spina bifida and a ventricular septal defect in the heart. At postmortem examination the cardiac defect was found to be a conotruncal abnormality, and there was a cleft palate, some facial dysmorphism as well as the spina bifida. A diagnosis of Kousself syndrome was made, but detailed cytogenetics subsequently revealed a 22q11.2 deletion. In the light of these findings, and on review of the literature, we suggest that spina bifida is recognized as a feature of the variable phenotype associated with this microdeletion.
AB - A fetus was diagnosed on ultrasound scan as having sacral spina bifida and a ventricular septal defect in the heart. At postmortem examination the cardiac defect was found to be a conotruncal abnormality, and there was a cleft palate, some facial dysmorphism as well as the spina bifida. A diagnosis of Kousself syndrome was made, but detailed cytogenetics subsequently revealed a 22q11.2 deletion. In the light of these findings, and on review of the literature, we suggest that spina bifida is recognized as a feature of the variable phenotype associated with this microdeletion.
UR - http://www.scopus.com/inward/record.url?scp=0036009946&partnerID=8YFLogxK
U2 - 10.1097/00019605-200204000-00007
DO - 10.1097/00019605-200204000-00007
M3 - Article
VL - 11
SP - 113
EP - 115
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
IS - 2
ER -